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Arteriosclerosis, severe juvenile

MedGen UID:
395330
Concept ID:
C1859725
Disease or Syndrome
Synonym: Arteriosclerosis, Severe Juvenile
 
Monarch Initiative: MONDO:0008819
OMIM®: 208060

Clinical features

From HPO
Chronic kidney disease
MedGen UID:
473458
Concept ID:
C1561643
Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Arteriosclerosis
MedGen UID:
2076
Concept ID:
C0003850
Disease or Syndrome
Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Myocardial infarction
MedGen UID:
10150
Concept ID:
C0027051
Disease or Syndrome
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
Calcification of the aorta
MedGen UID:
202111
Concept ID:
C1096249
Pathologic Function
Calcification, that is, pathological deposition of calcium salts in the aorta.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Gastric ulcer
MedGen UID:
21330
Concept ID:
C0038358
Disease or Syndrome
An ulcer, that is, an erosion of an area of the gastric mucous membrane.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Dysplasia of second lumbar vertebra
MedGen UID:
870850
Concept ID:
C4025310
Anatomical Abnormality
Hip dysplasia
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Stiff skin
MedGen UID:
478445
Concept ID:
C3276815
Finding
An induration (hardening) of the skin
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Central retinal vessel vascular tortuosity
MedGen UID:
867211
Concept ID:
C4021569
Finding
The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).
Central fundal arteriolar microaneurysms
MedGen UID:
870313
Concept ID:
C4024755
Disease or Syndrome
Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.

Professional guidelines

PubMed

Paton JH, Reeves DS
Drug Saf 1991 Jan-Feb;6(1):8-27. doi: 10.2165/00002018-199106010-00002. PMID: 2029356

Recent clinical studies

Etiology

Takashima A, Yagi S, Yamaguchi K, Kurahashi K, Kojima Y, Zheng R, Ise T, Kusunose K, Yoshida S, Yamada H, Soeki T, Wakatsuki T, Aihara KI, Akaike M, Sata M
J Med Invest 2021;68(1.2):189-191. doi: 10.2152/jmi.68.189. PMID: 33994469
Robinson GA, Waddington KE, Coelewij L, Peng J, Naja M, Wincup C, Radziszewska A, Peckham H, Isenberg DA, Ioannou Y, Ciurtin C, Pineda-Torra I, Jury EC
EBioMedicine 2021 Mar;65:103243. Epub 2021 Feb 24 doi: 10.1016/j.ebiom.2021.103243. PMID: 33640328Free PMC Article
Coppola G, Corrado E, Piraino D, Carella M, Muratori L, Camarda P, Di Vincenzo A, Ciaramitaro G, Farinella M, Rotolo A, Evola S, Hoffmann E, Assennato P, Novo S
Int Angiol 2009 Apr;28(2):120-6. PMID: 19367241
Paton JH, Reeves DS
Drug Saf 1991 Jan-Feb;6(1):8-27. doi: 10.2165/00002018-199106010-00002. PMID: 2029356
Valsania P, Zarich SW, Kowalchuk GJ, Kosinski E, Warram JH, Krolewski AS
Am Heart J 1991 Sep;122(3 Pt 1):695-700. doi: 10.1016/0002-8703(91)90513-h. PMID: 1764129

Diagnosis

Robinson GA, Waddington KE, Coelewij L, Peng J, Naja M, Wincup C, Radziszewska A, Peckham H, Isenberg DA, Ioannou Y, Ciurtin C, Pineda-Torra I, Jury EC
EBioMedicine 2021 Mar;65:103243. Epub 2021 Feb 24 doi: 10.1016/j.ebiom.2021.103243. PMID: 33640328Free PMC Article
Düzova A, Gülhan B, Topaloğlu R, Özaltın F, Cengiz AB, Yetimakman AF, Doğru D, Güçer Ş, Beşbaş N
Turk J Pediatr 2019;61(1):111-116. doi: 10.24953/turkjped.2019.01.018. PMID: 31559731
Chaudhary R, Roy K, Kanwar RK, Walder K, Kanwar JR
J Nanobiotechnology 2016 Jan 16;14:6. doi: 10.1186/s12951-016-0157-1. PMID: 26775253Free PMC Article
Muhammed K, Nandakumar G, Saritha S
Indian J Dermatol Venereol Leprol 2006 Sep-Oct;72(5):364-6. doi: 10.4103/0378-6323.27754. PMID: 17050932
Raitta C, Kaitila I
Acta Ophthalmol (Copenh) 1985 Apr;63(2):175-82. doi: 10.1111/j.1755-3768.1985.tb01531.x. PMID: 4003046

Therapy

Paton JH, Reeves DS
Drug Saf 1991 Jan-Feb;6(1):8-27. doi: 10.2165/00002018-199106010-00002. PMID: 2029356
Pramsohler B, Lupattelli G, Scholz H, Sinzinger H
Prog Clin Biol Res 1990;355:71-80. PMID: 2126381

Prognosis

Robinson GA, Waddington KE, Coelewij L, Peng J, Naja M, Wincup C, Radziszewska A, Peckham H, Isenberg DA, Ioannou Y, Ciurtin C, Pineda-Torra I, Jury EC
EBioMedicine 2021 Mar;65:103243. Epub 2021 Feb 24 doi: 10.1016/j.ebiom.2021.103243. PMID: 33640328Free PMC Article
Hadden DR, Weaver JA
Postgrad Med J 1979;55 Suppl 2:40-9. PMID: 113781

Clinical prediction guides

Robinson GA, Waddington KE, Coelewij L, Peng J, Naja M, Wincup C, Radziszewska A, Peckham H, Isenberg DA, Ioannou Y, Ciurtin C, Pineda-Torra I, Jury EC
EBioMedicine 2021 Mar;65:103243. Epub 2021 Feb 24 doi: 10.1016/j.ebiom.2021.103243. PMID: 33640328Free PMC Article
Chaudhary R, Roy K, Kanwar RK, Walder K, Kanwar JR
J Nanobiotechnology 2016 Jan 16;14:6. doi: 10.1186/s12951-016-0157-1. PMID: 26775253Free PMC Article
Coppola G, Corrado E, Piraino D, Carella M, Muratori L, Camarda P, Di Vincenzo A, Ciaramitaro G, Farinella M, Rotolo A, Evola S, Hoffmann E, Assennato P, Novo S
Int Angiol 2009 Apr;28(2):120-6. PMID: 19367241
Paton JH, Reeves DS
Drug Saf 1991 Jan-Feb;6(1):8-27. doi: 10.2165/00002018-199106010-00002. PMID: 2029356
Valsania P, Zarich SW, Kowalchuk GJ, Kosinski E, Warram JH, Krolewski AS
Am Heart J 1991 Sep;122(3 Pt 1):695-700. doi: 10.1016/0002-8703(91)90513-h. PMID: 1764129

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